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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827820487
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2914818
ClinVar RCV Id:
RCV003649062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341194.1:p.Ile1077Val
CA357935838
NM_001354265.2:c.3229A>G